KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
Identifieur interne : 000848 ( PubMed/Checkpoint ); précédent : 000847; suivant : 000849KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.
Auteurs : Huan Hu [République populaire de Chine] ; Xueshan Xiao [République populaire de Chine] ; Shiqiang Li [République populaire de Chine] ; Xiaoyun Jia [République populaire de Chine] ; Xiangming Guo [République populaire de Chine] ; Qingjiong Zhang [République populaire de Chine]Source :
- The British journal of ophthalmology [ 1468-2079 ] ; 2016.
Descripteurs français
- KwdFr :
- Adulte, Amorces ADN (), Analyse de mutations d'ADN, Angiographie fluorescéinique, Codon non-sens, Enfant, Exome (génétique), Femelle, Humains, Kinésine (génétique), Mosaïcisme, Mutation avec décalage du cadre de lecture, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Rétinopathies (diagnostic), Rétinopathies (génétique), Techniques de génotypage.
- MESH :
- diagnostic : Rétinopathies.
- génétique : Exome, Kinésine, Rétinopathies.
- Adulte, Amorces ADN, Analyse de mutations d'ADN, Angiographie fluorescéinique, Codon non-sens, Enfant, Femelle, Humains, Mosaïcisme, Mutation avec décalage du cadre de lecture, Mâle, Pedigree, Phénotype, Réaction de polymérisation en chaîne, Techniques de génotypage.
English descriptors
- KwdEn :
- Adult, Child, Codon, Nonsense, DNA Mutational Analysis, DNA Primers (chemistry), Exome (genetics), Female, Fluorescein Angiography, Frameshift Mutation, Genotyping Techniques, Humans, Kinesin (genetics), Male, Mosaicism, Pedigree, Phenotype, Polymerase Chain Reaction, Retinal Diseases (diagnosis), Retinal Diseases (genetics).
- MESH :
- chemical , chemistry : DNA Primers.
- chemical , genetics : Kinesin.
- chemical : Codon, Nonsense.
- diagnosis : Retinal Diseases.
- genetics : Exome, Retinal Diseases.
- Adult, Child, DNA Mutational Analysis, Female, Fluorescein Angiography, Frameshift Mutation, Genotyping Techniques, Humans, Male, Mosaicism, Pedigree, Phenotype, Polymerase Chain Reaction.
Abstract
To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.
DOI: 10.1136/bjophthalmol-2015-306878
PubMed: 26472404
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
pubmed:26472404Le document en format XML
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type="wicri:source">PubMed</idno><date when="2016">2016</date><idno type="RBID">pubmed:26472404</idno><idno type="pmid">26472404</idno><idno type="doi">10.1136/bjophthalmol-2015-306878</idno><idno type="wicri:Area/PubMed/Corpus">000B84</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000B84</idno><idno type="wicri:Area/PubMed/Curation">000B84</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000B84</idno><idno type="wicri:Area/PubMed/Checkpoint">000B84</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000B84</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.</title><author><name sortKey="Hu, Huan" sort="Hu, Huan" uniqKey="Hu H" first="Huan" last="Hu">Huan Hu</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Xiao, Xueshan" sort="Xiao, Xueshan" uniqKey="Xiao X" first="Xueshan" last="Xiao">Xueshan Xiao</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Li, Shiqiang" sort="Li, Shiqiang" uniqKey="Li S" first="Shiqiang" last="Li">Shiqiang Li</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Jia, Xiaoyun" sort="Jia, Xiaoyun" uniqKey="Jia X" first="Xiaoyun" last="Jia">Xiaoyun Jia</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Guo, Xiangming" sort="Guo, Xiangming" uniqKey="Guo X" first="Xiangming" last="Guo">Xiangming Guo</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author><author><name sortKey="Zhang, Qingjiong" sort="Zhang, Qingjiong" uniqKey="Zhang Q" first="Qingjiong" last="Zhang">Qingjiong Zhang</name><affiliation wicri:level="3"><nlm:affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</nlm:affiliation><country xml:lang="fr">République populaire de Chine</country><wicri:regionArea>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou</wicri:regionArea><placeName><settlement type="city">Jiangmen</settlement><region type="province">Guangdong</region></placeName></affiliation></author></analytic><series><title level="j">The British journal of ophthalmology</title><idno type="eISSN">1468-2079</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Child</term><term>Codon, Nonsense</term><term>DNA Mutational Analysis</term><term>DNA Primers (chemistry)</term><term>Exome (genetics)</term><term>Female</term><term>Fluorescein Angiography</term><term>Frameshift Mutation</term><term>Genotyping Techniques</term><term>Humans</term><term>Kinesin (genetics)</term><term>Male</term><term>Mosaicism</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term><term>Retinal Diseases (diagnosis)</term><term>Retinal Diseases (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Amorces ADN ()</term><term>Analyse de mutations d'ADN</term><term>Angiographie fluorescéinique</term><term>Codon non-sens</term><term>Enfant</term><term>Exome (génétique)</term><term>Femelle</term><term>Humains</term><term>Kinésine (génétique)</term><term>Mosaïcisme</term><term>Mutation avec décalage du cadre de lecture</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Rétinopathies (diagnostic)</term><term>Rétinopathies (génétique)</term><term>Techniques de génotypage</term></keywords><keywords scheme="MESH" type="chemical" qualifier="chemistry" xml:lang="en"><term>DNA Primers</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Kinesin</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Codon, Nonsense</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Retinal Diseases</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Rétinopathies</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exome</term><term>Retinal Diseases</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Exome</term><term>Kinésine</term><term>Rétinopathies</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child</term><term>DNA Mutational Analysis</term><term>Female</term><term>Fluorescein Angiography</term><term>Frameshift Mutation</term><term>Genotyping Techniques</term><term>Humans</term><term>Male</term><term>Mosaicism</term><term>Pedigree</term><term>Phenotype</term><term>Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Amorces ADN</term><term>Analyse de mutations d'ADN</term><term>Angiographie fluorescéinique</term><term>Codon non-sens</term><term>Enfant</term><term>Femelle</term><term>Humains</term><term>Mosaïcisme</term><term>Mutation avec décalage du cadre de lecture</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Réaction de polymérisation en chaîne</term><term>Techniques de génotypage</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">26472404</PMID><DateCreated><Year>2016</Year><Month>01</Month><Day>23</Day></DateCreated><DateCompleted><Year>2016</Year><Month>05</Month><Day>26</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>26</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1468-2079</ISSN><JournalIssue CitedMedium="Internet"><Volume>100</Volume><Issue>2</Issue><PubDate><Year>2016</Year><Month>Feb</Month></PubDate></JournalIssue><Title>The British journal of ophthalmology</Title><ISOAbbreviation>Br J Ophthalmol</ISOAbbreviation></Journal><ArticleTitle>KIF11 mutations are a common cause of autosomal dominant familial exudative vitreoretinopathy.</ArticleTitle><Pagination><MedlinePgn>278-83</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1136/bjophthalmol-2015-306878</ELocationID><Abstract><AbstractText Label="BACKGROUND/AIMS" NlmCategory="OBJECTIVE">To identify KIF11 mutations in patients with familial exudative vitreoretinopathy (FEVR) and to describe the associated phenotypes.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Mutation analysis in a cohort of patients in a single institute was conducted. Bioinformatics was performed for whole exome sequencing, and the variants were confirmed by Sanger sequencing. Clinical data and DNA samples were collected from 814 unrelated Chinese probands, including 34 with FEVR, at the Pediatric and Genetic Eye Clinic, Zhongshan Ophthalmic Centre, Guangzhou, China.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Four novel heterozygous truncation mutations in KIF11, including c.131_132dupAT (p.P45Ifs*92), c.2230C>T (p.Q744*), c.2863C>T (p.Q955*) and c.2952_2955delGCAG (p.G985Ifs*6), were detected in four of 34 probands with FEVR. Combined with our previously identified mutations in FEVR cases (n=14), KIF11 mutations were identified in 8.3% (4/48) of all probands with FEVR. Ocular phenotypes documented in patients with KIF11 mutations showed a significant great variability of FEVR from the avascular zone in the peripheral retina to bilateral complete retinal detachment. Analysis of available family members in family QT1314 and QT937 showed segregation of KIF11 mutations with the phenotype of FEVR as expected. The family QT964 with two affected siblings and unaffected parents demonstrated a peculiar somatic mosaicism in the mother who had a low copy number variant (about 7% in her leucocyte DNA).</AbstractText><AbstractText Label="CONCLUSIONS" NlmCategory="CONCLUSIONS">Identification of mutations in 8.3% patients suggests KIF11 mutations as a common cause of FEVR. Patients with KIF11 mutations showed typical, but variable, signs of FEVR with or without microcephaly, lymphoedema and mental retardation.</AbstractText><CopyrightInformation>Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Hu</LastName><ForeName>Huan</ForeName><Initials>H</Initials><AffiliationInfo><Affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Xiao</LastName><ForeName>Xueshan</ForeName><Initials>X</Initials><AffiliationInfo><Affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Li</LastName><ForeName>Shiqiang</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Jia</LastName><ForeName>Xiaoyun</ForeName><Initials>X</Initials><AffiliationInfo><Affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Guo</LastName><ForeName>Xiangming</ForeName><Initials>X</Initials><AffiliationInfo><Affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Zhang</LastName><ForeName>Qingjiong</ForeName><Initials>Q</Initials><AffiliationInfo><Affiliation>State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Centre, Sun Yat-sen University, Guangzhou, China.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2015</Year><Month>10</Month><Day>15</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Br J Ophthalmol</MedlineTA><NlmUniqueID>0421041</NlmUniqueID><ISSNLinking>0007-1161</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D018389">Codon, Nonsense</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C470243">KIF11 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.4.4</RegistryNumber><NameOfSubstance UI="D016547">Kinesin</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C580083">Familial Exudative Vitreoretinopathy</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018389" MajorTopicYN="Y">Codon, Nonsense</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017931" MajorTopicYN="N">DNA Primers</DescriptorName><QualifierName UI="Q000737" MajorTopicYN="N">chemistry</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D059472" MajorTopicYN="N">Exome</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005451" MajorTopicYN="N">Fluorescein Angiography</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016368" MajorTopicYN="Y">Frameshift Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D060005" MajorTopicYN="N">Genotyping Techniques</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016547" MajorTopicYN="N">Kinesin</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009030" MajorTopicYN="N">Mosaicism</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D016133" MajorTopicYN="N">Polymerase Chain Reaction</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012164" MajorTopicYN="N">Retinal Diseases</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2015</Year><Month>03</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2015</Year><Month>09</Month><Day>26</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2015</Year><Month>10</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2015</Year><Month>10</Month><Day>17</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2016</Year><Month>5</Month><Day>27</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">26472404</ArticleId><ArticleId IdType="pii">bjophthalmol-2015-306878</ArticleId><ArticleId IdType="doi">10.1136/bjophthalmol-2015-306878</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>République populaire de Chine</li></country><region><li>Guangdong</li></region><settlement><li>Jiangmen</li></settlement></list><tree><country name="République populaire de Chine"><region name="Guangdong"><name sortKey="Hu, Huan" sort="Hu, Huan" uniqKey="Hu H" first="Huan" last="Hu">Huan Hu</name></region><name sortKey="Guo, Xiangming" sort="Guo, Xiangming" uniqKey="Guo X" first="Xiangming" last="Guo">Xiangming Guo</name><name sortKey="Jia, Xiaoyun" sort="Jia, Xiaoyun" uniqKey="Jia X" first="Xiaoyun" last="Jia">Xiaoyun Jia</name><name sortKey="Li, Shiqiang" sort="Li, Shiqiang" uniqKey="Li S" first="Shiqiang" last="Li">Shiqiang Li</name><name sortKey="Xiao, Xueshan" sort="Xiao, Xueshan" uniqKey="Xiao X" first="Xueshan" last="Xiao">Xueshan Xiao</name><name sortKey="Zhang, Qingjiong" sort="Zhang, Qingjiong" uniqKey="Zhang Q" first="Qingjiong" last="Zhang">Qingjiong Zhang</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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